Source: CLINVAR ×
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0266544
Disease: Microcornea
Microcornea 		4 3 3 9.1E-02 1 1.6E-02
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		17 22 3 6.5E-02 2 2.5E-02
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		2 22 2 6.2E-02 1 1.2E-02
CUI: C3805411
Disease: CATARACT 30
CATARACT 30 		2 2 2 6.2E-02 1 1.6E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 54 3 5.3E-02 1 8.8E-03
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		18 22 2 4.2E-02 3 3.7E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 0 2 3.8E-02 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		31 40 2 3.3E-02 1 1.0E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		32 41 2 3.2E-02 2 2.0E-02
CUI: C0040458
Disease: Unerupted tooth
Unerupted tooth 		1 1 1 3.1E-02 1 1.6E-02
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		1 69 1 3.1E-02 3 2.4E-02
CUI: C0239574
Disease: Low grade fever
Low grade fever 		1 0 1 3.1E-02 0 0
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		1 15 1 3.1E-02 1 1.3E-02
CUI: C0282529
Disease: Chondrodysplasia Punctata, Rhizomelic
Chondrodysplasia Punctata, Rhizomelic 		1 1 1 3.1E-02 1 1.6E-02
CUI: C0750929
Disease: Arnold-Chiari Malformation, Type I
Arnold-Chiari Malformation, Type I 		1 0 1 3.1E-02 0 0
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		1 0 1 3.1E-02 0 0
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1 14 1 3.1E-02 1 1.4E-02
CUI: C1832175
Disease: Cataract, Congenital, Cerulean Type, 2
Cataract, Congenital, Cerulean Type, 2 		1 5 1 3.1E-02 2 3.1E-02
CUI: C1832812
Disease: Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation 		1 0 1 3.1E-02 0 0
CUI: C1833798
Disease: Optic Nerve Aplasia, Bilateral
Optic Nerve Aplasia, Bilateral 		1 0 1 3.1E-02 0 0
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		1 0 1 3.1E-02 0 0
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		1 0 1 3.1E-02 0 0
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		1 0 1 3.1E-02 0 0
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		1 0 1 3.1E-02 0 0
CUI: C1857657
Disease: Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue 		1 0 1 3.1E-02 0 0